Antonio Gambardella
Department of Medical and Surgical Sciences
Biography:
Dr. Gambardella is a clinical neurologist and clinical researcher with a special interest in establishing close research links with basic scientists. His group, together with molecular genetic collaborators in Italy, discovered in 2000 the beta2 nicotinic acetylcholine receptor gene for nocturnal frontal lobe epilepsy and subsequently have been involved in the discovery of other epilepsy genes. A recent scientific result was the identification of a homozygous mutation in the STXBP1 gene associated with Lennox-Gastaut syndrome, a severe epileptic encephalopathy of childhood. He has also focused on clinical and neurophysiological aspects, and genetics of temporal lobe epilepsy, the most common type of focal epilepsy. He is currently an active investigator of the Epi25 Collaborative group that has developed from an initiative coming out of the NIH National Human Genome Research Institute (NHGRI) and the International League Against Epilepsy (ILAE) Consortium on Genetics of Complex Epilepsies to make more rapid progress towards fully understanding the inherited components of epilepsies.